Variant report

Variant	rs11811583
Chromosome Location	chr1:185280082-185280083
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:185279985-185280122	K562	blood:	n/a	n/a
2	GATA3	chr1:185279900-185280135	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185124975..185127830-chr1:185279297..185282140,2	K562	blood:

Variant related genes	Relation type
IVNS1ABP	TF binding region
ENSG00000121486	Chromatin interaction
ENSG00000116668	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11802738	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11804954	0.88[AFR][1000 genomes]
rs11807870	1.00[AMR][1000 genomes]
rs16823875	0.90[AFR][1000 genomes]
rs16823884	0.90[AFR][1000 genomes]
rs16823891	0.90[AFR][1000 genomes]
rs3766713	0.88[AFR][1000 genomes]
rs3766716	0.90[AFR][1000 genomes]
rs3895195	0.97[AFR][1000 genomes]
rs57960155	0.97[AFR][1000 genomes]
rs58031282	0.90[AFR][1000 genomes]
rs58292874	0.88[AFR][1000 genomes]
rs59611551	0.88[AFR][1000 genomes]
rs60064915	0.88[AFR][1000 genomes]
rs6674689	1.00[AMR][1000 genomes]
rs6679946	0.90[AFR][1000 genomes]
rs6680028	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6687946	0.97[AFR][1000 genomes]
rs73053929	1.00[AMR][1000 genomes]
rs7516303	0.88[AFR][1000 genomes]
rs953701	0.88[AFR][1000 genomes]
rs953702	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185262000-185280400	Strong transcription	Placenta	Placenta
2	chr1:185262000-185280800	Strong transcription	HMEC	breast
3	chr1:185262000-185281000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:185262000-185281600	Strong transcription	Fetal Thymus	thymus
5	chr1:185262000-185281800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:185262000-185281800	Strong transcription	HSMM	muscle
7	chr1:185262200-185280400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:185262200-185280600	Strong transcription	NH-A	brain
9	chr1:185262200-185281000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:185262400-185280400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr1:185262600-185280400	Strong transcription	Primary hematopoietic stem cells	blood
12	chr1:185262600-185280400	Strong transcription	Osteobl	bone
13	chr1:185262800-185280600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:185263000-185280400	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr1:185263000-185281400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:185263200-185280200	Strong transcription	Dnd41	blood
17	chr1:185263200-185280400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr1:185263200-185280400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:185263200-185280800	Strong transcription	NHEK	skin
20	chr1:185263600-185280200	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:185263600-185280400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:185263600-185280800	Strong transcription	A549	lung
23	chr1:185263600-185281000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:185263600-185281000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:185263600-185281600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:185263800-185280400	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr1:185263800-185280800	Strong transcription	Hela-S3	cervix
28	chr1:185263800-185281000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:185263800-185281000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:185264000-185280200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:185264000-185281000	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr1:185264400-185280200	Strong transcription	K562	blood
33	chr1:185264400-185280400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr1:185264600-185281000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:185265200-185280600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:185265400-185280400	Strong transcription	Fetal Muscle Leg	muscle
37	chr1:185265600-185280600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr1:185265600-185281000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:185266200-185281600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:185266600-185280200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:185266800-185280200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:185268800-185284600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:185270400-185284800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:185270800-185284800	Weak transcription	Gastric	stomach
45	chr1:185271000-185280200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr1:185272400-185280400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:185272600-185280400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:185272800-185280200	Strong transcription	GM12878-XiMat	blood
49	chr1:185273400-185280200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:185273800-185280600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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